Canonical Allele Identifier: CA346366042
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 935897
ClinVar RCV Id: RCV001204584
dbSNP Id: rs1315811250
MyVariant Identifiers: chr2:g.39250074C>T (hg19) chr2:g.39022933C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022933C>T , CM000664.2:g.39022933C>T GRCh38
NC_000002.11:g.39250074C>T , CM000664.1:g.39250074C>T GRCh37
NC_000002.10:g.39103578C>T NCBI36
NG_007530.1:g.102531G>A , LRG_754:g.102531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1375G>A
ENST00000685279.1:c.262G>A ENSP00000509424.1:p.Val88Ile
ENST00000688043.1:n.1716G>A
ENST00000689668.1:n.1502G>A
ENST00000690876.1:c.1384G>A ENSP00000508955.1:p.Val462Ile
ENST00000691229.1:c.1384G>A ENSP00000510437.1:p.Val462Ile
ENST00000692089.1:c.1384G>A ENSP00000508626.1:p.Val462Ile
ENST00000692620.1:c.262G>A ENSP00000509311.1:p.Val88Ile
ENST00000402219.8:c.1495G>A MANE Select ENSP00000384675.2:p.Val499Ile
ENST00000395038.6:c.1495G>A ENSP00000378479.2:p.Val499Ile
ENST00000402219.6:c.1495G>A ENSP00000384675.2:p.Val499Ile
ENST00000426016.5:c.1495G>A ENSP00000387784.1:p.Val499Ile
ENST00000472480.1:n.339G>A
NM_005633.3:c.1495G>A , LRG_754t1:c.1495G>A NP_005624.2:p.Val499Ile
XM_005264515.3:c.1495G>A XP_005264572.1:p.Val499Ile
XM_011533060.1:c.1588G>A XP_011531362.1:p.Val530Ile
XM_011533061.1:c.1588G>A XP_011531363.1:p.Val530Ile
XM_011533062.1:c.1474G>A XP_011531364.1:p.Val492Ile
XM_011533063.1:c.1471G>A XP_011531365.1:p.Val491Ile
XM_011533064.1:c.1324G>A XP_011531366.1:p.Val442Ile
XM_011533065.1:c.1588G>A XP_011531367.1:p.Val530Ile
XM_011533066.1:c.430G>A XP_011531368.1:p.Val144Ile
XM_005264515.4:c.1495G>A XP_005264572.1:p.Val499Ile
XM_011533062.2:c.1474G>A XP_011531364.1:p.Val492Ile
XM_011533064.2:c.1324G>A XP_011531366.1:p.Val442Ile
NM_001382394.1:c.1474G>A NP_001369323.1:p.Val492Ile
NM_001382395.1:c.1495G>A NP_001369324.1:p.Val499Ile
NM_005633.4:c.1495G>A MANE Select NP_005624.2:p.Val499Ile
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